Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

Autor: Roberts, Angharad M., DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S., Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, Sant, David W., Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.

Publikováno v: In Genetics in Medicine February 2024 26(2)

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

Autor: Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Riggs ER; Geisinger Autism & Developmental Medicine Institute, Danville, PA, USA., Josephs KS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia., Amberger J; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA., Amin M; INSERM, US14-Orphanet, Paris, France., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill NC, 27599., Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Eilbeck K; Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah., Firth HV; Dept of Medical Genetics, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK., Foreman J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Hamosh A; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA., Hay E; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK., Leigh S; Genomics England, Queen Mary University of London, Dawson Hall, London, EC1M 6BQ, UK., Martin CL; Clinical Genome Resource (ClinGen), USA., McDonagh EM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.; Open Targets, Cambridge, UK., Perrett D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Ramos EM; National Human Genome Research Institute, National Institutes of Health, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington CT 06032, USA., Rath A; INSERM, US14-Orphanet, Paris, France., van Sant D; Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah., Stark Z; Australian Genomics, Melbourne 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.; University of Melbourne, Melbourne 3052, Australia., Whiffin N; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Big Data Institute and Wellcome Centre for Human Genetics, University of Oxford, UK., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Apr 03. Date of Electronic Publication: 2023 Apr 03.

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Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Autor: Ho Heon Kim, Dong-Wook Kim, Junwoo Woo, Kyoungyeul Lee

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)

Abstract Background In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico prediction of the path

Externí odkaz: https://doaj.org/article/bcefd9676d8d49719d8baea45c84db19